Nearly 100,000 highly diverse whole genome sequences are now available through the All of UsResearch Program at the National Institutes of Health. About 50% of the data is from individuals who identify with racial or ethnic groups that have historically been underrepresented in research. This data will enable researchers to address yet unanswered issues about health and disease, leading to new discoveries and advancement efforts.
Nearly 90% of respondents from large genomics studies have been from Europe. According to Josh Denny, the lack of diversity in research has impeded scientific discovery. All of Usparticipants are leading the way in more equitable representation in medical research through their involvement. This is just the beginning. As we expand our data and add new tools, this dataset will become a vital resource for health research.
The genomic information is available on a cloud-based platform, theAll of UsResearcher Workbenchand. In addition, genotyping arrays from 165,000 participants provide basic information about almost everything of an individual''s genetic makeup, while genotyping arrays, the most commonly used genetic testing technique, capturing a specific subset of the genome.
The Workbench, which includes data from many participants'' electronic health records, Fitbit devices, and survey responses, has also provided a link to the Census Bureaus American Community Survey''s data to provide more information about the communities where participants live. This combination of data will enable researchers to better understand how genes can cause or influence diseases in the context of other health determinants. The program has eliminated all direct identifiers from the data and adheres strict requirements for researchers seeking access.
TheAll of Usplatform is unique because it is designed with team science in mind, allowing researchers to explore topics in an open and collaborative way, according to Gail Jarvik, MD. It will provide even more possibilities for discovery to understand the significance of genes and variants, as well as many other factors that impact health and disease.
Through generous contributions fromAll of Usparticipants, the Researcher Workbench has been expanded. Beyond providing personal DNA data for research,All of Usparticipants have the option to receive personalized DNA results at no cost to them. So far, the program has offered genetic ancestry and trait results to over 100,000 participants. Plans are underway to begin sharing health-related DNA findings on hereditary disease risk and medication-gene interactions later this year.
With this release of genomic data,All of Usnow is ranked among the largest international biobank research initiatives, including the UK Biobank, the Million Veteran Program, and the NIHs Trans-Omics for Precision Medicine (TOPMed).
All of Usworks is led by Vanderbilt University Medical Center in collaboration with the University of Washington, a health technology company, to provide personalized information to participants on genetic ancestry and traits.